CIT

citron rho-interacting serine/threonine kinase
OMIM: 605629, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green CIT in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly 17, primary, autosomal recessive (MIM#617090)

Green CIT in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.269

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Microcephaly 17, primary, autosomal recessive (MIM#617090)

Green CIT in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Microcephaly 17, primary, autosomal recessive (MIM#617090)

Green CIT in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly 17, primary, autosomal recessive, 617090 (3)

Green CIT in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Literature
Phenotypes
  • Microcephaly 17, primary, autosomal recessive, OMIM:617090
  • Microcephaly 17, primary, autosomal recessive, MONDO:0014908

Green CIT in Prepair 1000+


Level 2: Screening
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly 17, primary, autosomal recessive, 617090 (3)